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Q9NZV5

- SELN_HUMAN

UniProt

Q9NZV5 - SELN_HUMAN

Protein

Selenoprotein N

Gene

SEPN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 5 (11 Jan 2011)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Selenoprotein N
    Short name:
    SelN
    Gene namesi
    Name:SEPN1
    Synonyms:SELN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:15999. SEPN1.

    Subcellular locationi

    Isoform 2 : Endoplasmic reticulum membrane Curated
    Note: Probably membrane-associated.

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti273 – 2731G → E in RSMD1. 1 Publication
    VAR_019635
    Natural varianti293 – 2931H → R in RSMD1. 2 Publications
    VAR_019636
    Natural varianti315 – 3151G → S in RSMD1. 2 Publications
    VAR_019637
    Natural varianti340 – 3401N → I in RSMD1. 1 Publication
    VAR_019638
    Natural varianti453 – 4531W → S in RSMD1. 1 Publication
    VAR_019639
    Natural varianti462 – 4621U → G in RSMD1. 1 Publication
    VAR_019640
    Natural varianti463 – 4631G → V in RSMD1. 1 Publication
    VAR_058462
    Natural varianti466 – 4661R → Q in RSMD1. 3 Publications
    VAR_019641
    Natural varianti469 – 4691R → Q in RSMD1. 1 Publication
    VAR_058463
    Natural varianti469 – 4691R → W in RSMD1. 1 Publication
    VAR_058464

    Keywords - Diseasei

    Desmin-related myopathy, Disease mutation, Myofibrillar myopathy

    Organism-specific databases

    MIMi602771. phenotype.
    Orphaneti324604. Classic multiminicore myopathy.
    2020. Congenital fiber-type disproportion myopathy.
    84132. Desmin-related myopathy with Mallory body-like inclusions.
    97244. Rigid spine syndrome.
    PharmGKBiPA38079.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 4343Sequence AnalysisAdd
    BLAST
    Chaini44 – 590547Selenoprotein NPRO_0000022311Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi126 – 1261N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi190 – 1901N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi483 – 4831N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi505 – 5051N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi531 – 5311N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated (isoform 2).

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9NZV5.
    PRIDEiQ9NZV5.

    PTM databases

    PhosphoSiteiQ9NZV5.

    Expressioni

    Tissue specificityi

    Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach.2 Publications

    Gene expression databases

    ArrayExpressiQ9NZV5.
    BgeeiQ9NZV5.
    CleanExiHS_SEPN1.
    GenevestigatoriQ9NZV5.

    Organism-specific databases

    HPAiHPA058076.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NCK1P163332EBI-1751965,EBI-389883

    Protein-protein interaction databases

    BioGridi121439. 2 interactions.
    IntActiQ9NZV5. 5 interactions.
    STRINGi9606.ENSP00000355141.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NZV5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini67 – 10236EF-handPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi17 – 5943Ala-richAdd
    BLAST

    Domaini

    The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.

    Sequence similaritiesi

    Contains 1 EF-hand domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG68411.
    HOGENOMiHOG000007489.
    HOVERGENiHBG108469.
    OMAiSTATYLQ.
    OrthoDBiEOG7HTHGM.
    PhylomeDBiQ9NZV5.
    TreeFamiTF329622.

    Family and domain databases

    InterProiIPR002048. EF_hand_dom.
    IPR029484. GVQW.
    [Graphical view]
    PfamiPF13900. GVQW. 1 hit.
    [Graphical view]
    PROSITEiPS50222. EF_HAND_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NZV5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGRARPGQRG PPSPGPAAQP PAPPRRRARS LALLGALLAA AAAAAVRVCA    50
    RHAEAQAAAR QELALKTLGT DGLFLFSSLD TDGDMYISPE EFKPIAEKLT 100
    GSCSVTQTGV QWCSHSSLQP QLPWLNUSSC LSLLRSTPAA SCEEEELPPD 150
    PSEETLTIEA RFQPLLPETM TKSKDGFLGV SRLALSGLRN WTAAASPSAV 200
    FATRHFQPFL PPPGQELGEP WWIIPSELSM FTGYLSNNRF YPPPPKGKEV 250
    IIHRLLSMFH PRPFVKTRFA PQGAVACLTA ISDFYYTVMF RIHAEFQLSE 300
    PPDFPFWFSP AQFTGHIILS KDATHVRDFR LFVPNHRSLN VDMEWLYGAS 350
    ESSNMEVDIG YIPQMELEAT GPSVPSVILD EDGSMIDSHL PSGEPLQFVF 400
    EEIKWQQELS WEEAARRLEV AMYPFKKVSY LPFTEAFDRA KAENKLVHSI 450
    LLWGALDDQS CUGSGRTLRE TVLESSPILT LLNESFISTW SLVKELEELQ 500
    NNQENSSHQK LAGLHLEKYS FPVEMMICLP NGTVVHHINA NYFLDITSVK 550
    PEEIESNLFS FSSTFEDPST ATYMQFLKEG LRRGLPLLQP 590

    Note: The UGA codons present in position 127 and 462 are either a selenocysteine or a real stop codon.

    Length:590
    Mass (Da):65,813
    Last modified:January 11, 2011 - v5
    Checksum:iD7D4D6331652C359
    GO
    Isoform 2 (identifier: Q9NZV5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         102-135: Missing.

    Note: The UGA codon present in position 462 is either a selenocysteine or a real stop codon.

    Show »
    Length:556
    Mass (Da):62,034
    Checksum:i0DAF9C344FA543AC
    GO

    Sequence cautioni

    The sequence AAH15638.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH42154.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti247 – 2471G → S in AAF21430. (PubMed:10608886)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti137 – 1371T → A.
    Corresponds to variant rs35019869 [ dbSNP | Ensembl ].
    VAR_038845
    Natural varianti142 – 1421C → Y.1 Publication
    Corresponds to variant rs7349185 [ dbSNP | Ensembl ].
    VAR_038846
    Natural varianti273 – 2731G → E in RSMD1. 1 Publication
    VAR_019635
    Natural varianti293 – 2931H → R in RSMD1. 2 Publications
    VAR_019636
    Natural varianti315 – 3151G → S in RSMD1. 2 Publications
    VAR_019637
    Natural varianti340 – 3401N → I in RSMD1. 1 Publication
    VAR_019638
    Natural varianti453 – 4531W → S in RSMD1. 1 Publication
    VAR_019639
    Natural varianti462 – 4621U → G in RSMD1. 1 Publication
    VAR_019640
    Natural varianti463 – 4631G → V in RSMD1. 1 Publication
    VAR_058462
    Natural varianti466 – 4661R → Q in RSMD1. 3 Publications
    VAR_019641
    Natural varianti469 – 4691R → Q in RSMD1. 1 Publication
    VAR_058463
    Natural varianti469 – 4691R → W in RSMD1. 1 Publication
    VAR_058464
    Natural varianti502 – 5021N → K.3 Publications
    Corresponds to variant rs2294228 [ dbSNP | Ensembl ].
    VAR_038847

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei102 – 13534Missing in isoform 2. 1 PublicationVSP_011372Add
    BLAST

    Non-standard residue

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Non-standard residuei127 – 1271Selenocysteine
    Non-standard residuei462 – 4621Selenocysteine

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ306399 mRNA. Translation: CAC83791.1.
    AJ306398 Genomic DNA. Translation: CAC83790.1.
    AL020996 Genomic DNA. No translation available.
    AF166125 mRNA. Translation: AAF21430.1.
    BC015638 mRNA. Translation: AAH15638.1. Different initiation.
    BC042154 mRNA. Translation: AAH42154.1. Different initiation.
    CCDSiCCDS41282.1. [Q9NZV5-1]
    CCDS41283.1. [Q9NZV5-2]
    RefSeqiNP_065184.2. NM_020451.2. [Q9NZV5-1]
    NP_996809.1. NM_206926.1. [Q9NZV5-2]
    UniGeneiHs.323396.

    Genome annotation databases

    EnsembliENST00000361547; ENSP00000355141; ENSG00000162430. [Q9NZV5-1]
    ENST00000374315; ENSP00000363434; ENSG00000162430. [Q9NZV5-2]
    GeneIDi57190.
    KEGGihsa:57190.
    UCSCiuc021ojk.1. human. [Q9NZV5-1]
    uc021ojl.1. human. [Q9NZV5-2]

    Polymorphism databases

    DMDMi317373588.

    Keywords - Coding sequence diversityi

    Alternative splicing, Selenocysteine

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ306399 mRNA. Translation: CAC83791.1 .
    AJ306398 Genomic DNA. Translation: CAC83790.1 .
    AL020996 Genomic DNA. No translation available.
    AF166125 mRNA. Translation: AAF21430.1 .
    BC015638 mRNA. Translation: AAH15638.1 . Different initiation.
    BC042154 mRNA. Translation: AAH42154.1 . Different initiation.
    CCDSi CCDS41282.1. [Q9NZV5-1 ]
    CCDS41283.1. [Q9NZV5-2 ]
    RefSeqi NP_065184.2. NM_020451.2. [Q9NZV5-1 ]
    NP_996809.1. NM_206926.1. [Q9NZV5-2 ]
    UniGenei Hs.323396.

    3D structure databases

    ProteinModelPortali Q9NZV5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121439. 2 interactions.
    IntActi Q9NZV5. 5 interactions.
    STRINGi 9606.ENSP00000355141.

    PTM databases

    PhosphoSitei Q9NZV5.

    Polymorphism databases

    DMDMi 317373588.

    Proteomic databases

    PaxDbi Q9NZV5.
    PRIDEi Q9NZV5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361547 ; ENSP00000355141 ; ENSG00000162430 . [Q9NZV5-1 ]
    ENST00000374315 ; ENSP00000363434 ; ENSG00000162430 . [Q9NZV5-2 ]
    GeneIDi 57190.
    KEGGi hsa:57190.
    UCSCi uc021ojk.1. human. [Q9NZV5-1 ]
    uc021ojl.1. human. [Q9NZV5-2 ]

    Organism-specific databases

    CTDi 57190.
    GeneCardsi GC01P026126.
    GeneReviewsi SEPN1.
    HGNCi HGNC:15999. SEPN1.
    HPAi HPA058076.
    MIMi 602771. phenotype.
    606210. gene.
    neXtProti NX_Q9NZV5.
    Orphaneti 324604. Classic multiminicore myopathy.
    2020. Congenital fiber-type disproportion myopathy.
    84132. Desmin-related myopathy with Mallory body-like inclusions.
    97244. Rigid spine syndrome.
    PharmGKBi PA38079.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG68411.
    HOGENOMi HOG000007489.
    HOVERGENi HBG108469.
    OMAi STATYLQ.
    OrthoDBi EOG7HTHGM.
    PhylomeDBi Q9NZV5.
    TreeFami TF329622.

    Miscellaneous databases

    ChiTaRSi SEPN1. human.
    GeneWikii SEPN1.
    GenomeRNAii 57190.
    NextBioi 63268.
    PROi Q9NZV5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NZV5.
    Bgeei Q9NZV5.
    CleanExi HS_SEPN1.
    Genevestigatori Q9NZV5.

    Family and domain databases

    InterProi IPR002048. EF_hand_dom.
    IPR029484. GVQW.
    [Graphical view ]
    Pfami PF13900. GVQW. 1 hit.
    [Graphical view ]
    PROSITEi PS50222. EF_HAND_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome."
      Moghadaszadeh B., Petit N., Jaillard C., Brockington M., Roy S.Q., Merlini L., Romero N., Estournet B., Desguerre I., Chaigne D., Muntoni F., Topaloglu H., Guicheney P.
      Nat. Genet. 29:17-18(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS RSMD1 GLU-273; ARG-293 AND GLN-466, VARIANTS TYR-142 AND LYS-502, TISSUE SPECIFICITY.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif."
      Lescure A., Gautheret D., Carbon P., Krol A.
      J. Biol. Chem. 274:38147-38154(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 86-590 (ISOFORM 2), VARIANT LYS-502.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 428-590 (ISOFORMS 1/2), VARIANT LYS-502.
      Tissue: Lung.
    5. "Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern."
      Petit N., Lescure A., Rederstorff M., Krol A., Moghadaszadeh B., Wewer U.M., Guicheney P.
      Hum. Mol. Genet. 12:1045-1053(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    6. "Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies."
      Ferreiro A., Quijano-Roy S., Pichereau C., Moghadaszadeh B., Goemans N., Boennemann C., Jungbluth H., Straub V., Villanova M., Leroy J.-P., Romero N.B., Martin J.-J., Muntoni F., Voit T., Estournet B., Richard P., Fardeau M., Guicheney P.
      Am. J. Hum. Genet. 71:739-749(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RSMD1 ARG-293; SER-315; ILE-340; SER-453; GLY-462 AND GLN-466.
    7. "Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene."
      Ferreiro A., Ceuterick-de Groote C., Marks J.J., Goemans N., Schreiber G., Hanefeld F., Fardeau M., Martin J.-J., Goebel H.H., Richard P., Guicheney P., Bonnemann C.G.
      Ann. Neurol. 55:676-686(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RSMD1 SER-315.
    8. "A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy."
      Maiti B., Arbogast S., Allamand V., Moyle M.W., Anderson C.B., Richard P., Guicheney P., Ferreiro A., Flanigan K.M., Howard M.T.
      Hum. Mutat. 30:411-416(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RSMD1 VAL-463; GLN-466; GLN-469 AND TRP-469.

    Entry informationi

    Entry nameiSELN_HUMAN
    AccessioniPrimary (citable) accession number: Q9NZV5
    Secondary accession number(s): A6NJG8
    , A8MQ64, Q6PI70, Q969F6, Q9NUI6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 116 of the entry and version 5 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3